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Chondrodystrophic myotonia (Schwartz-Jampel syndrome) in South African children.

作者信息

Moodley M, Moosa A

机构信息

Department of Paediatrics and Child Health, Faculty of Medicine, University of Natal, Congella, Republic of South Africa.

出版信息

Neuropediatrics. 1990 Nov;21(4):206-10. doi: 10.1055/s-2008-1071497.

Abstract

Three children with the clinical features of the Schwartz-Jampel syndrome are presented, two with classical features and the third with physical and radiological features resembling those found in the Schwartz-Jampel syndrome but myotonia could not be elicited either clinically or electrophysiologically. Various arguments are put forward for the absence of myotonic phenomena in the latter child.

摘要

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